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SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma.

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Title: SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma.
Authors: Huai-Xiang Hao, Khalimonchuk, Oleh, Schraders, Margit, Dephoure, Noah, Bayley, Jean-Pierre, Kunst, Henricus, Devilee, Peter, Cremers, Cor W. R. J., Schiffman, Joshua D., Bentz, Brandon G., Gygi, Steven P., Winge, Dennis R., Kremer, Hannie, Rutter, Jared
Source: Science (pre-March 2025). 8/28/2009, Vol. 325 Issue 5944, p1139-1142. 4p.
Subjects: Succinate dehydrogenase, Paraganglioma, Genetic mutation, Mitochondria, Protein research, Yeast research, Krebs cycle, Proteomics
Abstract: Mammalian mitochondria contain about 1100 proteins, nearly 300 of which are uncharacterized. Given the well-established role of mitochondrial defects in human disease, functional characterization of these proteins may shed new tight on disease mechanisms. Starting with yeast as a model system, we investigated an uncharacterized but highly conserved mitochondrial protein (named here Sdh5). Both yeast and human Sdh5 interact with the catalytic subunit of the succinate dehydrogenase (SDH) complex, a component of both the electron transport chain and the tricarboxylic acid cycle. Sdh5 is required for SDH-dependent respiration and for Sdh1 flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene, located on chromosome 11q13.1, segregate with disease in a family with hereditary paraganglioma, a neuroendocrine tumor previously linked to mutations in genes encoding SDH subunits. Thus, a mitochondrial proteomics analysis in yeast has led to the discovery of a human tumor susceptibility gene. [ABSTRACT FROM AUTHOR]
Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma.
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  Data: <searchLink fieldCode="AR" term="%22Huai-Xiang+Hao%22">Huai-Xiang Hao</searchLink><br /><searchLink fieldCode="AR" term="%22Khalimonchuk%2C+Oleh%22">Khalimonchuk, Oleh</searchLink><br /><searchLink fieldCode="AR" term="%22Schraders%2C+Margit%22">Schraders, Margit</searchLink><br /><searchLink fieldCode="AR" term="%22Dephoure%2C+Noah%22">Dephoure, Noah</searchLink><br /><searchLink fieldCode="AR" term="%22Bayley%2C+Jean-Pierre%22">Bayley, Jean-Pierre</searchLink><br /><searchLink fieldCode="AR" term="%22Kunst%2C+Henricus%22">Kunst, Henricus</searchLink><br /><searchLink fieldCode="AR" term="%22Devilee%2C+Peter%22">Devilee, Peter</searchLink><br /><searchLink fieldCode="AR" term="%22Cremers%2C+Cor+W%2E+R%2E+J%2E%22">Cremers, Cor W. R. J.</searchLink><br /><searchLink fieldCode="AR" term="%22Schiffman%2C+Joshua+D%2E%22">Schiffman, Joshua D.</searchLink><br /><searchLink fieldCode="AR" term="%22Bentz%2C+Brandon+G%2E%22">Bentz, Brandon G.</searchLink><br /><searchLink fieldCode="AR" term="%22Gygi%2C+Steven+P%2E%22">Gygi, Steven P.</searchLink><br /><searchLink fieldCode="AR" term="%22Winge%2C+Dennis+R%2E%22">Winge, Dennis R.</searchLink><br /><searchLink fieldCode="AR" term="%22Kremer%2C+Hannie%22">Kremer, Hannie</searchLink><br /><searchLink fieldCode="AR" term="%22Rutter%2C+Jared%22">Rutter, Jared</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Science+%28pre-March+2025%29%22">Science (pre-March 2025)</searchLink>. 8/28/2009, Vol. 325 Issue 5944, p1139-1142. 4p.
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  Data: <searchLink fieldCode="DE" term="%22Succinate+dehydrogenase%22">Succinate dehydrogenase</searchLink><br /><searchLink fieldCode="DE" term="%22Paraganglioma%22">Paraganglioma</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Mitochondria%22">Mitochondria</searchLink><br /><searchLink fieldCode="DE" term="%22Protein+research%22">Protein research</searchLink><br /><searchLink fieldCode="DE" term="%22Yeast+research%22">Yeast research</searchLink><br /><searchLink fieldCode="DE" term="%22Krebs+cycle%22">Krebs cycle</searchLink><br /><searchLink fieldCode="DE" term="%22Proteomics%22">Proteomics</searchLink>
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  Data: Mammalian mitochondria contain about 1100 proteins, nearly 300 of which are uncharacterized. Given the well-established role of mitochondrial defects in human disease, functional characterization of these proteins may shed new tight on disease mechanisms. Starting with yeast as a model system, we investigated an uncharacterized but highly conserved mitochondrial protein (named here Sdh5). Both yeast and human Sdh5 interact with the catalytic subunit of the succinate dehydrogenase (SDH) complex, a component of both the electron transport chain and the tricarboxylic acid cycle. Sdh5 is required for SDH-dependent respiration and for Sdh1 flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene, located on chromosome 11q13.1, segregate with disease in a family with hereditary paraganglioma, a neuroendocrine tumor previously linked to mutations in genes encoding SDH subunits. Thus, a mitochondrial proteomics analysis in yeast has led to the discovery of a human tumor susceptibility gene. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=44090336
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        Text: English
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      – SubjectFull: Succinate dehydrogenase
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